Titre : Syndrome de Denys-Drash

Syndrome de Denys-Drash : Questions médicales fréquentes

Termes MeSH sélectionnés :

Microcirculation
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Denys-Drash ?\nQuels tests génétiques sont utilisés ?\nQuels signes cliniques indiquent ce syndrome ?\nLes échographies sont-elles utiles ?\nLe syndrome est-il héréditaire ?", "url": "https://questionsmedicales.fr/mesh/D030321?mesh_terms=Microcirculation&page=2#section-diagnostic" }, { "@type": "MedicalWebPage", "name": "Symptômes", "headline": "Symptômes sur Syndrome de Denys-Drash", "description": "Quels sont les symptômes principaux ?\nY a-t-il des signes de dysfonctionnement hormonal ?\nLes enfants sont-ils affectés dès la naissance ?\nLe syndrome affecte-t-il la croissance ?\nY a-t-il des symptômes psychologiques associés ?", "url": "https://questionsmedicales.fr/mesh/D030321?mesh_terms=Microcirculation&page=2#section-symptômes" }, { "@type": "MedicalWebPage", "name": "Prévention", "headline": "Prévention sur Syndrome de Denys-Drash", "description": "Peut-on prévenir le syndrome de Denys-Drash ?\nComment le conseil génétique aide-t-il ?\nLes tests prénataux sont-ils possibles 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complications affectent-elles la qualité de vie ?", "url": "https://questionsmedicales.fr/mesh/D030321?mesh_terms=Microcirculation&page=2#section-complications" }, { "@type": "MedicalWebPage", "name": "Facteurs de risque", "headline": "Facteurs de risque sur Syndrome de Denys-Drash", "description": "Quels sont les facteurs de risque connus ?\nLe sexe influence-t-il le risque ?\nLes facteurs environnementaux jouent-ils un rôle ?\nLes mutations génétiques sont-elles héréditaires ?\nY a-t-il des tests pour évaluer le risque ?", "url": "https://questionsmedicales.fr/mesh/D030321?mesh_terms=Microcirculation&page=2#section-facteurs de risque" } ] }, { "@type": "FAQPage", "mainEntity": [ { "@type": "Question", "name": "Comment diagnostique-t-on le syndrome de Denys-Drash ?", "position": 1, "acceptedAnswer": { "@type": "Answer", "text": "Le diagnostic repose sur l'examen clinique, l'analyse génétique et l'imagerie rénale." } }, { "@type": "Question", "name": "Quels tests génétiques sont utilisés ?", "position": 2, "acceptedAnswer": { "@type": "Answer", "text": "Des tests pour identifier des mutations dans le gène WT1 sont effectués." } }, { "@type": "Question", "name": "Quels signes cliniques indiquent ce syndrome ?", "position": 3, "acceptedAnswer": { "@type": "Answer", "text": "Les signes incluent des malformations rénales, des anomalies génitales et des troubles de croissance." } }, { "@type": "Question", "name": "Les échographies sont-elles utiles ?", "position": 4, "acceptedAnswer": { "@type": "Answer", "text": "Oui, les échographies rénales aident à détecter les anomalies structurelles." } }, { "@type": "Question", "name": "Le syndrome est-il héréditaire ?", "position": 5, "acceptedAnswer": { "@type": "Answer", "text": "Oui, il est généralement hérité de manière autosomique dominante." } }, { "@type": "Question", "name": "Quels sont les symptômes principaux ?", "position": 6, "acceptedAnswer": { "@type": "Answer", "text": "Les symptômes incluent l'insuffisance rénale, des anomalies génitales et des tumeurs." } }, { "@type": "Question", "name": "Y a-t-il des signes de dysfonctionnement hormonal ?", "position": 7, "acceptedAnswer": { "@type": "Answer", "text": "Oui, des signes de dysfonctionnement hormonal peuvent apparaître, affectant la puberté." } }, { "@type": "Question", "name": "Les enfants sont-ils affectés dès la naissance ?", "position": 8, "acceptedAnswer": { "@type": "Answer", "text": "Les symptômes peuvent apparaître à la naissance ou se développer durant l'enfance." } }, { "@type": "Question", "name": "Le syndrome affecte-t-il la croissance ?", "position": 9, "acceptedAnswer": { "@type": "Answer", "text": "Oui, des retards de croissance peuvent être observés chez les enfants atteints." } }, { "@type": "Question", "name": "Y a-t-il des symptômes psychologiques associés ?", "position": 10, "acceptedAnswer": { "@type": "Answer", "text": "Des problèmes psychologiques peuvent survenir, liés à l'adaptation à la maladie." } }, { "@type": "Question", "name": "Peut-on prévenir le syndrome de Denys-Drash ?", "position": 11, "acceptedAnswer": { "@type": "Answer", "text": "Il n'existe pas de prévention, mais un conseil génétique peut aider les familles à risque." } }, { "@type": "Question", "name": "Comment le conseil génétique aide-t-il ?", "position": 12, "acceptedAnswer": { "@type": "Answer", "text": "Il informe les familles sur les risques de transmission et les options disponibles." } }, { "@type": "Question", "name": "Les tests prénataux sont-ils possibles ?", "position": 13, "acceptedAnswer": { "@type": "Answer", "text": "Oui, des tests prénataux peuvent détecter des anomalies génétiques chez le fœtus." } }, { "@type": "Question", "name": "Les parents doivent-ils être testés ?", "position": 14, "acceptedAnswer": { "@type": "Answer", "text": "Oui, le dépistage des parents peut identifier des porteurs de mutations génétiques." } }, { "@type": "Question", "name": "Y a-t-il des recommandations pour les familles ?", "position": 15, "acceptedAnswer": { "@type": "Answer", "text": "Les familles doivent être informées des signes précoces et des soins médicaux nécessaires." } }, { "@type": "Question", "name": "Quel est le traitement principal pour l'insuffisance rénale ?", "position": 16, "acceptedAnswer": { "@type": "Answer", "text": "La dialyse ou la transplantation rénale est souvent nécessaire pour l'insuffisance rénale." } }, { "@type": "Question", "name": "Des traitements hormonaux sont-ils nécessaires ?", "position": 17, "acceptedAnswer": { "@type": "Answer", "text": "Oui, des traitements hormonaux peuvent être requis pour corriger les anomalies sexuelles." } }, { "@type": "Question", "name": "Comment gérer les tumeurs associées ?", "position": 18, "acceptedAnswer": { "@type": "Answer", "text": "Les tumeurs peuvent nécessiter une chirurgie, une chimiothérapie ou une radiothérapie." } }, { "@type": "Question", "name": "Y a-t-il des soins de soutien disponibles ?", "position": 19, "acceptedAnswer": { "@type": "Answer", "text": "Oui, des soins de soutien psychologique et éducatif sont souvent recommandés." } }, { "@type": "Question", "name": "Le suivi médical est-il important ?", "position": 20, "acceptedAnswer": { "@type": "Answer", "text": "Oui, un suivi régulier est crucial pour surveiller l'évolution de la maladie." } }, { "@type": "Question", "name": "Quelles sont les complications possibles ?", "position": 21, "acceptedAnswer": { "@type": "Answer", "text": "Les complications incluent l'insuffisance rénale terminale et les cancers associés." } }, { "@type": "Question", "name": "Le syndrome augmente-t-il le risque de cancer ?", "position": 22, "acceptedAnswer": { "@type": "Answer", "text": "Oui, les patients ont un risque accru de développer des tumeurs, notamment rénales." } }, { "@type": "Question", "name": "Des complications psychologiques peuvent-elles survenir ?", "position": 23, "acceptedAnswer": { "@type": "Answer", "text": "Oui, des complications psychologiques comme l'anxiété et la dépression sont possibles." } }, { "@type": "Question", "name": "Comment les complications sont-elles gérées ?", "position": 24, "acceptedAnswer": { "@type": "Answer", "text": "Les complications nécessitent une approche multidisciplinaire incluant divers spécialistes." } }, { "@type": "Question", "name": "Les complications affectent-elles la qualité de vie ?", "position": 25, "acceptedAnswer": { "@type": "Answer", "text": "Oui, les complications peuvent significativement impacter la qualité de vie des patients." } }, { "@type": "Question", "name": "Quels sont les facteurs de risque connus ?", "position": 26, "acceptedAnswer": { "@type": "Answer", "text": "Les facteurs incluent des antécédents familiaux de syndrome et des mutations génétiques." } }, { "@type": "Question", "name": "Le sexe influence-t-il le risque ?", "position": 27, "acceptedAnswer": { "@type": "Answer", "text": "Oui, le syndrome est plus fréquent chez les garçons en raison des anomalies sexuelles." } }, { "@type": "Question", "name": "Les facteurs environnementaux jouent-ils un rôle ?", "position": 28, "acceptedAnswer": { "@type": "Answer", "text": "Actuellement, il n'y a pas de preuves solides liant des facteurs environnementaux au syndrome." } }, { "@type": "Question", "name": "Les mutations génétiques sont-elles héréditaires ?", "position": 29, "acceptedAnswer": { "@type": "Answer", "text": "Oui, les mutations dans le gène WT1 sont souvent héritées de manière autosomique dominante." } }, { "@type": "Question", "name": "Y a-t-il des tests pour évaluer le risque ?", "position": 30, "acceptedAnswer": { "@type": "Answer", "text": "Des tests génétiques peuvent évaluer le risque pour les membres de la famille." } } ] } ] }

Sources (582 au total)

Workload and sex effects in comprehensive assessment of cutaneous microcirculation.

Workload and sex-related differences have been proposed as factors of importance when evaluating the microcirculation. Simultaneous assessments with diffuse reflectance spectroscopy (DRS) and laser Do... In 24 healthy participants (aged 20 to 30 years, 12 females), cutaneous microcirculation was assessed by LDF and DRS at baseline, during a workload generated by cycling at 75 to 80 % of maximal age-pr... Females had significantly lower RBC tissue fraction and total perfusion in forearm skin microcirculation at all phases (baseline, workload, and recovery). All microvascular parameters increased signif... Compared to a resting state, all studied microcirculation measures increased during cycling. For perfusion, this was mainly due to increased speed, and only to a minor extent due to increased RBC tiss...

Angiography derived assessment of the coronary microcirculation: is it ready for prime time?

Non-obstructive coronary arteries (NOCA) are present in 39.7% to 62.4% of patients who undergo elective angiography. Coronary microcirculation (<400 µm) is not visible on angiography therefore functio... In this review, we revisit the pathophysiology, clinical importance, and invasive assessment of the coronary microcirculation, and discuss angiography-derived indices of microvascular resistance. A co... The coronary microvasculature plays an important role in flow autoregulation and metabolic regulation. Invasive assessment of microvascular resistance is a validated modality with independent prognost...

Alterations in ocular microcirculation and oxygen metabolism in patients with lipemia retinalis.

The study aims to assess the alterations in retinal oxygen saturation and retinal and choroidal blood flow in lipemia retinalis.... This was a cross-sectional study on 10 eyes (5 patients) with history of lipemia retinalis. The study comprised 10 eyes with documented history of lipemia retinalis and 10 participants as healthy cont... Patients with untreated lipemia retinalis had a significantly higher retinal arteriolar and venular oxygen saturation than that of the other two groups (p < 0.001). Moreover, patients with untreated l... There was a significant alteration in retinal oximetry, in untreated lipemia retinalis, and in retinal blood flow, in both the resolved and untreated groups. The increase in retinal blood flow and oxy...

Direct assessment of microcirculation in shock: a randomized-controlled multicenter study.

Shock is a life-threatening condition characterized by substantial alterations in the microcirculation. This study tests the hypothesis that considering sublingual microcirculatory perfusion variables... This randomized, prospective clinical multicenter trial-recruited patients with an arterial lactate value above two mmol/L, requiring vasopressors despite adequate fluid resuscitation, regardless of t... Overall, we included 141 patients with cardiogenic (n = 77), post cardiac surgery (n = 27), or septic shock (n = 22). 69 patients were randomized to the intervention and 72 to routine care. No serious... Integrating sublingual microcirculatory perfusion variables in the therapy plan resulted in treatment changes that do not improve survival at all....

Association between microcirculation in spontaneous breathing trial and extubation success.

This study assessed the association between changes in sublingual microcirculation after a spontaneous breathing trial (SBT) and successful extubation.... Sublingual microcirculation was assessed using an incident dark-field video microscope before and after each SBT and before extubation. Microcirculatory parameters before the SBT, at the end of the SB... Forty-seven patients were enrolled and analysed in this study (34 patients in the successful extubation group and 13 patients in the failed extubation group). At the end of the SBT, the weaning parame... More patients are required to investigate the difference between baseline microcirculation before a successful SBT and the change in microcirculation at the end of the SBT between the successful and f...

Use of new microcirculation software allows the demonstration of dermis vascularization.

Current ultrasound (US) Doppler techniques cannot demonstrate the vascularization of the dermis. The purpose of this study was to investigate whether the new Superb Vascular Imaging (SMI) and Microvas... By using US, 50 healthy volunteers were evaluated at level of five body areas: forehead, forearm, palm, buttock, and thigh. Two off-site operators evaluated the images to assess the difference between... SMI scored grade 0 in 0% of body areas, grade 1 in 58%, grade 2 in 33%, and grade 3 in 9%. In comparison with SMI, PD scored grade 0 in 38% of body areas, grade 1 in 56%, grade 2 in 6%, and grade 3 in... We found both SMI and MV-Flow to be superior to PD imaging and capable to demonstrate normal vascularization of the dermis....

The sublingual microcirculation and frailty index in chronic kidney disease patients.

To examine the relationship between sublingual microcirculatory measures and frailty index in those attending a kidney transplant assessment clinic.... Patients recruited had their sublingual microcirculation taken using sidestream dark field videomicroscopy (MicroScan, Micro Vision Medical, Amsterdam, the Netherlands) and their frailty index score u... A total of 44 patients were recruited with two being excluded due to microcirculatory image quality scores exceeding 10. The frailty index score indicated significant correlations with total vessel de... There is a relationship between the frailty index and microcirculatory health in those attending a kidney transplant assessment clinic, that is not confounded by age. These findings suggest that the i...